| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| intellectual disability (HCFC1) | Hypotonia, lethargy, tremor, and developmental delays | X-Linked Recessive | X.q28 | Missense | HCFC1 | 5705G>A | Ser1902Asn | Amino Acid Substitution | Hussain et al., 2024/2024 |
